Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Hagit Baris

Showing results (61-70 of 96) with videos related to

Pageof 10
Sort By:
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|February 5, 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variantsGili Reznick Levi, Yael Goldberg, Hanna Segev, et al.
Journal of Medical Genetics|April 9, 2025
<i>LSM1</i> c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
Familial Cancer|August 31, 2013
Lynch Syndrome in high risk Ashkenazi Jews in IsraelYael Goldberg, Inbal Kedar, Revital Kariiv, et al.
Journal of Medical Genetics|May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insightsAdi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.
American Journal of Hematology|August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
American Journal of Hematology|June 23, 2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final resultsPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Journal of Clinical Immunology|May 13, 2019
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 VariantAlina Kurolap, Orly Eshach Adiv, Liza Konnikova, et al.
Lancet (London, England)|January 26, 2024
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 studyAhmet Ozen, Voranush Chongsrisawat, Asena Pinar Sefer, et al.
JAMA|February 18, 2015
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Pageof 10

Showing results (61-70 of 96) with videos related to

Sort By:
Pageof 10
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|February 5, 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variantsGili Reznick Levi, Yael Goldberg, Hanna Segev, et al.
Journal of Medical Genetics|April 9, 2025
<i>LSM1</i> c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
Familial Cancer|August 31, 2013
Lynch Syndrome in high risk Ashkenazi Jews in IsraelYael Goldberg, Inbal Kedar, Revital Kariiv, et al.
Journal of Medical Genetics|May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insightsAdi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.
American Journal of Hematology|August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
American Journal of Hematology|June 23, 2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final resultsPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Journal of Clinical Immunology|May 13, 2019
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 VariantAlina Kurolap, Orly Eshach Adiv, Liza Konnikova, et al.
Lancet (London, England)|January 26, 2024
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 studyAhmet Ozen, Voranush Chongsrisawat, Asena Pinar Sefer, et al.
JAMA|February 18, 2015
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Pageof 10